- Constriction of peripheral visual field (HP:0001133): An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Evidence: PCS. Frequency: 11/14. (PMID:17564971)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 12/13. (PMID:17564971)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 14/14. (PMID:17564971)
- Tritanomaly (HP:0000552): Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. Evidence: TAS. (OMIM:611131)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: IEA. (OMIM:611131)
- Nuclear cataract (HP:0100018): A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. Evidence: PCS. Frequency: 2/14. (PMID:17564971)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/13. (PMID:17564971)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 4/13. (PMID:17564971)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:611131)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 14/14. (PMID:17564971)
- Cystoid macular degeneration (HP:0008028): A form of macular degeneration characterized by the presence of multiple cystoid spaces in the macula. Evidence: PCS. Frequency: 2/14. (PMID:17564971)
- Posterior subcapsular cataract (HP:0007787): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: PCS. Frequency: 6/14. (PMID:17564971)
- Red-green dyschromatopsia (HP:0000642): Difficulty with discriminating red and green hues. Evidence: PCS. (PMID:17564971)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: PCS. Frequency: 14/14. (PMID:17564971)
- Undetectable light- and dark-adapted electroretinogram (HP:0007688): Absence of the combined rod-and-cone response on electroretinogram. Evidence: PCS. (PMID:17564971)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:17564971)
These phenotypes are associated with the disease retinitis pigmentosa 37 (OMIM:611131).